Clinical Trials

22q11.2 deletion syndrome is a genetic disorder that can cause heart defects, facial abnormalities, and developmental and learning disabilities. The severity of the disorder can vary widely among people. This study will analyze DNA from people with 22q11.2 deletion syndrome to identify genetic variations that may affect the severity of the disorder.

Does your child have Down Syndrome? Did they have a complete atrioventricular septal defect (CAVSD) repair within the first year of their life? Researchers in this study are investigating how the
brain develops in children with Down Syndrome who have congenital heart disease. To participate, your child must be between 5 and 12 years old and have Down Syndrome. The study will enroll children who have congenital heart disease as well as children who do not have congenital heart disease. The study is taking place in locations in Delaware, Georgia, Indiana, Massachusetts, Michigan, Missouri, New York, Ohio, Pennsylvania, South Carolina, Texas, Utah, Washington, D.C., and Toronto, Canada

Do you or one of your children have a congenital heart defect? This study will find both common genetic causes of congenital heart disease and ways that genes influence results of medical treatment. To participate in this study, you or your child must have congenital heart disease. This study is located in Los Angeles, Palo Alto, and San Francisco, California; New Haven, Connecticut; Boston, Massachusetts; New York and Rochester, New York; Philadelphia, Pennsylvania; and Salt Lake City, Utah.

Does your developing baby have a heart defect? Have you had a stillborn baby? This study tests a new technology to measure fetal heart activity and find possible problems early. These problems include fetal arrhythmia and conduction disorders such as Brugada syndrome. To participate in this study, you must be at least 18 years old and pregnant, and have one of five high-risk complications of pregnancy: a fetus with a major congenital heart defect, hydrops, or gastroschisis; a previous unexplained stillbirth; or twins who share a placenta. This study is located in Madison and Milwaukee, Wisconsin.

Do you have a high-risk pregnancy? This study will investigate the use of a non-invasive scan called fetal magnetocardiography to detect potential problems in the fetus in five high-risk pregnancy conditions associated with stillbirth. The scan is normally used to look at fetal heart rhythms. To participate in this study, you must be at least 18 years old and pregnant with one of the following: having a stillbirth in a previous pregnancy, carrying identical twins, or having a fetus that has been diagnosed with major congenital heart disease, fetal hydrops, or fetal gastroschisis. This study takes place in Madison and Milwaukee, Wisconsin.

his trial will evaluate an oral drug discovered in a high throughput screen, which increases fetal globin protein (HbF and red blood cells expressing HbF)and messenger ribonucleic acid (mRNA) to high levels in anemic nonhuman primates and in transgenic mice.

The main goal of this study is to determine whether the treatment will lead to a complete absence of severe vaso-occlusive events (VOEs) in patients with severe SCD.

This study is seeking to determine the safety and tolerability of dronabinol use in adults with SCD compared to placebo.

Are you 15 to 40 years old and have severe sickle cell disease? This study is comparing long-term outcomes for patients who receive blood and bone marrow transplants and those who receive standard treatment with medicines. Participants also have an option of contributing blood samples to be stored for future research. Participants must be 15 to 40 years old and have severe sickle cell disease. This study is located in Madison, Wisconsin.

Are you an adult who has sickle cell disease and wheezing not caused by asthma? This study will test an inhaled medicine called mometasone for people who have sickle cell disease and wheezing that is not caused by asthma. To participate in this study, you must be at least 18 years old and not have asthma, acute respiratory symptoms, or a current pain crisis. This study is located in New York, New York.